neonatal short-limb short stature Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
Description	A type of short-limbed dwarfism that is manifest beginning in the neonatal period. (Human Phenotype Ontology, HP_0008921)
External Link	http://compbio.charite.de/hpoweb/showterm?id=HP:0008921
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Genes

9 genes associated with the neonatal short-limb short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol	Name
COL1A1	collagen, type I, alpha 1
COL1A2	collagen, type I, alpha 2
COL2A1	collagen, type II, alpha 1
EVC	Ellis van Creveld protein
EVC2	Ellis van Creveld syndrome 2
FGFR3	fibroblast growth factor receptor 3
RMRP	RNA component of mitochondrial RNA processing endoribonuclease
SLC26A2	solute carrier family 26 (anion exchanger), member 2
SOX9	SRY (sex determining region Y)-box 9